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Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat
(Bioscientifica, 2013-02-11)
Fragile X mental retardation protein (FMRP) belongs to a small family of RNA-binding proteins. Its absence or inactivity is responsible for fragile X syndrome, the most common cause of inherited mental retardation. Despite ...
The presynaptic microtubule cytoskeleton in physiological and pathological conditions: lessons from drosophila fragile x syndrome and hereditary spastic paraplegias.
(2016)
The capacity of the nervous system to generate neuronal networks relies on the establishment and maintenance of synaptic contacts. Synapses are composed of functionally different presynaptic and postsynaptic compartments. ...
The presynaptic microtubule cytoskeleton in physiological and pathological conditions: lessons from Drosophila Fragile X Syndrome and hereditary spastic paraplegias
(2016)
The capacity of the nervous system to generate neuronal networks relies on the establishment and maintenance of synaptic contacts. Synapses are composed of functionally different presynaptic and postsynaptic compartments. ...
Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome
(Mary Ann Liebert, Inc., 2012-11-01)
The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB ...
Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome
(Mary Ann Liebert, Inc., 2012-11-01)
The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB ...
PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: Limits and utility
(2007)
A group of mutations characterized by trinucleotide repeat expansion causes human diseases such as the Fragile X syndrome, Huntington disease (HD), and myotonic dystrophy. Methods based on PCR amplification of the CGG and ...
Brain acetylcholine and choline concentrations and dynamics in a murine model of the Fragile X syndrome: age, sex and region-specific changes
(Elsevier, 2015-08)
Fragile X syndrome is a learning disability caused by excess of CGG repeats in the 5′ untranslated region of the Fragile X gene (FMR1) silencing its transcription and translation. We used a murine model of this condition, ...